Cystinuria type I: Identification of eight new mutations in SLC3A1

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

Marı́a Julia Calonge, Paolo Gasparini, Miguel Chillón et al. · Nature Genetics · 1994 · 381 citations

Medicine, Genetics, Molecular Genetics +3

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Lídia Feliubadaló, Jesús Purroy, F. Rousaud et al. · Nature Genetics · 1999 · 335 citations

Medicine, Genetics, Molecular Genetics +4

Cystinuria: biochemical evidence for three genetically distinct diseases.

Leah Rosenberg, Sylvia J. Downing, J. L. Durant et al. · Journal of Clinical Investigation · 1966 · 291 citations · Full text

Medicine, Molecular Genetics, Pathobiology +4

Cloning of a rat kidney cDNA that stimulates dibasic and neutral amino acid transport and has sequence similarity to glucosidases.

Rebecca G. Wells, Matthias A. Hediger · Proceedings of the National Academy of Sciences · 1992 · 220 citations

Life Sciences, Biochemistry, Molecular Biology +11

Expression cloning of a cDNA from rabbit kidney cortex that induces a single transport system for cystine and dibasic and neutral amino acids.

Joan Bertran, Andreas Werner, M L Moore et al. · Proceedings of the National Academy of Sciences · 1992 · 218 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12